Incidental Mutation 'R4346:a'
ID 324323
Institutional Source Beutler Lab
Gene Symbol a
Ensembl Gene ENSMUSG00000027596
Gene Name nonagouti
Synonyms agouti, As, ASP, agouti signal protein
MMRRC Submission 041667-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R4346 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 154792519-154892932 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 154887651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 37 (R37Q)
Ref Sequence ENSEMBL: ENSMUSP00000105319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029123] [ENSMUST00000109697] [ENSMUST00000137333] [ENSMUST00000148402]
AlphaFold Q03288
Predicted Effect probably benign
Transcript: ENSMUST00000029123
AA Change: R37Q

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000029123
Gene: ENSMUSG00000027596
AA Change: R37Q

DomainStartEndE-ValueType
Agouti 6 127 3.98e-69 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109697
AA Change: R37Q

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000105319
Gene: ENSMUSG00000027596
AA Change: R37Q

DomainStartEndE-ValueType
Agouti 6 127 3.98e-69 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132342
Predicted Effect probably benign
Transcript: ENSMUST00000137333
AA Change: R37Q

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000122261
Gene: ENSMUSG00000027596
AA Change: R37Q

DomainStartEndE-ValueType
Agouti 6 70 2.53e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148300
Predicted Effect probably benign
Transcript: ENSMUST00000148402
AA Change: R37Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000121072
Gene: ENSMUSG00000027596
AA Change: R37Q

DomainStartEndE-ValueType
Agouti 6 75 2.32e-6 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (31/31)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Agouti acts in the hair follicles, primarily affecting the relative amount and distribution of yellow pigment (phaeomelanin) and black pigment (eumelanin) in hairs of the coat. Some alleles show lethal effects or are associated with obesity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 T C 7: 133,583,264 (GRCm39) T128A possibly damaging Het
Dnah8 A T 17: 30,944,072 (GRCm39) Q1763L possibly damaging Het
Dvl3 G A 16: 20,350,049 (GRCm39) R645H possibly damaging Het
Egflam A T 15: 7,263,759 (GRCm39) C730* probably null Het
Fbxo40 T C 16: 36,790,525 (GRCm39) E195G probably benign Het
Frmd4a T C 2: 4,612,844 (GRCm39) S1025P possibly damaging Het
Gba2 A G 4: 43,571,337 (GRCm39) V204A probably benign Het
Igkv8-28 C T 6: 70,121,096 (GRCm39) probably benign Het
Lef1 T C 3: 130,988,357 (GRCm39) M308T probably damaging Het
Map1a A G 2: 121,131,806 (GRCm39) N874S probably benign Het
Med12l A T 3: 58,938,976 (GRCm39) T37S probably damaging Het
Ogfod2 A G 5: 124,251,357 (GRCm39) Y57C probably damaging Het
Or5b94 A G 19: 12,651,592 (GRCm39) T8A probably benign Het
Plxnd1 A G 6: 115,954,941 (GRCm39) V607A probably benign Het
Pnpt1 A G 11: 29,095,478 (GRCm39) D409G probably damaging Het
Pycr3 G A 15: 75,790,580 (GRCm39) T93I probably damaging Het
Ros1 A G 10: 52,044,705 (GRCm39) Y201H possibly damaging Het
Scart2 G A 7: 139,827,878 (GRCm39) V29M probably damaging Het
Slc25a54 A G 3: 109,010,055 (GRCm39) T185A possibly damaging Het
Smarcc2 A G 10: 128,304,692 (GRCm39) I221V probably benign Het
Tnfrsf19 C A 14: 61,209,429 (GRCm39) probably null Het
Ttll11 T C 2: 35,674,130 (GRCm39) N599S probably benign Het
Ttn T G 2: 76,638,926 (GRCm39) I13919L probably damaging Het
Vmn2r63 A G 7: 42,577,537 (GRCm39) F334L possibly damaging Het
Vps13d A G 4: 144,799,099 (GRCm39) probably benign Het
Zfp646 A G 7: 127,478,681 (GRCm39) Y286C probably damaging Het
Other mutations in a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:a APN 2 154,887,593 (GRCm39) missense probably benign 0.00
IGL02421:a APN 2 154,892,672 (GRCm39) missense probably damaging 0.98
garfield UTSW 2 0 () unclassified
killer_whale UTSW 2 0 () unclassified
split UTSW 2 0 () unclassified
yellowbelly UTSW 2 0 () unclassified
R0670:a UTSW 2 154,887,678 (GRCm39) missense probably damaging 1.00
R2114:a UTSW 2 154,889,649 (GRCm39) missense probably benign
R4082:a UTSW 2 154,887,678 (GRCm39) missense probably damaging 1.00
R6188:a UTSW 2 154,889,602 (GRCm39) missense probably damaging 0.99
R6476:a UTSW 2 154,892,699 (GRCm39) missense probably benign 0.00
R7211:a UTSW 2 154,887,699 (GRCm39) missense probably damaging 1.00
R7295:a UTSW 2 154,887,678 (GRCm39) missense probably damaging 1.00
R8776:a UTSW 2 154,892,612 (GRCm39) missense probably damaging 0.99
R8776-TAIL:a UTSW 2 154,892,612 (GRCm39) missense probably damaging 0.99
Predicted Primers
Posted On 2015-06-24